Non-mosaic, non-azoospermic Klinefelter's syndrome in a young man with bilateral varicocele.

摘要

Klinefelter's syndrome (KS) and varicocele are common causes of male infertility (1-3). This study underlines the important role of medical visit in young males as a tool for epidemiologic and andrologic screening. A21-yr-old man visited our Unit of Andrology due to reduced testicular volume. The patient was tall (1.85 m) and clinical evaluation showed testicular hypotrophy, bilateral varicocele, no gynecomastia, and normal distribution of facial and body hair. The sonografy confirmed testicular hypotrophy (right: 3.66 ml, left: 5.56 ml) with reduced testicular parenchyma density. Ultrasound Doppler scan showed the presence of right (grade II) and left (grade IV) varicoceles, according to Sarteschi's classification (4). Semen analysis showed severe hypoposia (vol: 0.7 ml) and oligoasthenoteratozoospermia (pH: 7.3; N/ml: 9x1O; forward motility: 5; atypical forms: 98). Serum hormonal profile showed marked elevation of FSH and LH levels, low inhibin B levels, normal PRL and testosterone (T) levels. The above data led to the diagnosis of genetic hypogonadism associated to bilateral varicocele, favored on the right side by a family history of venous insufficiency. Diagnosis of KS was confirmed by karyotyp-ing, corresponding to a non-mosaic XXY male.